Canonical Allele Identifier: CA341162946

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444287G>T (hg19) ; chr1:g.102978731G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978731G>T , CM000663.2:g.102978731G>T	GRCh38
NC_000001.10:g.103444287G>T , CM000663.1:g.103444287G>T	GRCh37
NC_000001.9:g.103216875G>T	NCBI36
NG_008033.1:g.134766C>A
NG_008033.2:g.134766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2731C>A MANE Select	ENSP00000359114.3:p.Pro911Thr
ENST00000353414.8:c.2614C>A	ENSP00000302551.6:p.Pro872Thr
ENST00000358392.6:c.2767C>A	ENSP00000351163.2:p.Pro923Thr
ENST00000370096.7:c.2731C>A	ENSP00000359114.3:p.Pro911Thr
ENST00000512756.5:c.2383C>A	ENSP00000426533.1:p.Pro795Thr
ENST00000635193.1:c.2065C>A
NM_001190709.1:c.2614C>A	NP_001177638.1:p.Pro872Thr
NM_001854.3:c.2731C>A	NP_001845.3:p.Pro911Thr
NM_080629.2:c.2767C>A	NP_542196.2:p.Pro923Thr
NM_080630.3:c.2383C>A	NP_542197.3:p.Pro795Thr
XM_011540719.1:c.2731C>A	XP_011539021.1:p.Pro911Thr
XM_011540720.1:c.964C>A	XP_011539022.1:p.Pro322Thr
XM_011540721.1:c.319C>A	XP_011539023.1:p.Pro107Thr
XR_946545.1:n.3145C>A
NR_134980.1:n.3065C>A
XM_017000334.1:c.2884C>A	XP_016855823.1:p.Pro962Thr
XM_017000335.1:c.2878C>A	XP_016855824.1:p.Pro960Thr
XM_017000336.1:c.2884C>A	XP_016855825.1:p.Pro962Thr
XM_017000337.1:c.1282C>A	XP_016855826.1:p.Pro428Thr
NM_001854.4:c.2731C>A MANE Select	NP_001845.3:p.Pro911Thr
NM_080630.4:c.2383C>A	NP_542197.3:p.Pro795Thr
NR_134980.2:n.3091C>A
NM_001190709.2:c.2614C>A	NP_001177638.1:p.Pro872Thr
NM_080629.3:c.2767C>A	NP_542196.2:p.Pro923Thr